severe neurodegenerative syndrome with lipodystrophy — Definition

Lipodistrofi ile seyreden şiddetli nörodejeneratif sendrom; this syndrome is a rare genetic disorder, characterized by abnormal distribution or loss of fat tissue in the body (lipodistrofi). The disease typically starts in early childhood and shows symptoms such as motion, balance, speech, distortion in engine functions, mental resurfacing and seizures. Lipodistrofi can cause metabolic problems (insulate resistance, hypertriglyceemia) by means of pronounced reduction of subcutaneous fat tissue or abnormal accumulation. This syndrome is often caused by gene mutations showing autozomal resessive inheritance, and is focused on symptom management, not being a specific treatment.

The Turkish equivalent of "severe neurodegenerative syndrome with lipodystrophy" is Lipodistrofi ile seyreden şiddetli nörodejeneratif sendrom.

This term belongs to the Diseases category.